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a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"

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(疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2013/10/22 19:27:01」(JST)

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Not to be confused with Sjögren's syndrome.

Sjögren–Larsson syndrome is an autosomal recessive form of ichthyosis apparent at birth.^[1]^:485^[2]^:564^[3] Sjögren–Larsson syndrome (SLS) is a rare autosomal, recessive, neurocutaneous disease. This disease can be identified by a triad of medical disorders. The first is ichthyosis, which is a buildup of skin to form a scale-like covering that causes dry skin and other problems. The second identifier is spastic paraplegia which is characterized by leg spasms. The final identifier is mental retardation. The gene of SLS is found on chromosome 17. In order for a child to receive SLS both parents must be carriers of the SLS gene. If they are carriers their child has a ¼ chance of getting the disease. In 1957 Sjogren and Larsson proposed that the Swedes with the disease all descended from a common ancestor 600 years ago. Today only 1% of Northern Sweden's population has this disease.

Causes[edit]

It is associated with a deficiency of the enzyme "fatty aldehyde dehydrogenase". At least 11 distinct mutations have been identified.^[4]

Genetics[edit]

This condition is inherited in an autosomal recessive pattern.

Pathological features[edit]

Dry and scaly skin similar to all other ichtyosiforms (types of ichthyosis).
Neurological problems - this can often cause mild paralysis in the legs
Mild to moderate mental retardation.

Eponym[edit]

It was characterized by Torsten Sjögren and Tage Konrad Leopold Larsson (1905-1998), a Swedish Medical Statistician.^[5]^[6]

It should not be confused with Sjögren's syndrome, which is a distinct condition named after a different person (Henrik Sjögren).

References[edit]

^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
^ Sillén A, Anton-Lamprecht I, Braun-Quentin C, et al. (1998). "Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome". Hum. Mutat. 12 (6): 377–84. doi:10.1002/(SICI)1098-1004(1998)12:6<377::AID-HUMU3>3.0.CO;2-I. PMID 9829906.
^ synd/1678 at Who Named It?
^ SJOGREN T, LARSSON T (1957). "Oligophrenia in combination with congenital ichthyosis and spastic disorders; a clinical and genetic study". Acta Psychiatr Neurol Scand Suppl 113: 1–112. PMID 13457946.

External links[edit]

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1. シェーグレン・ラルソン症候群 sjogren larsson syndrome
2. 遺伝性の魚鱗癬の概要 overview of the inherited ichthyoses
3. 新生児および乳児の紅皮症 neonatal and infantile erythroderma
4. 先天性代謝異常：疫学、病因、および臨床的特徴 inborn errors of metabolism epidemiology pathogenesis and clinical features
5. 遺伝性痙性対麻痺 hereditary spastic paraplegia

English Journal

Disorders of phospholipids, sphingolipids and fatty acids biosynthesis: toward a new category of inherited metabolic diseases.

Lamari F, Mochel F, Sedel F, Saudubray JM.SourceNeurometabolic Unit, Pitié-Salpêtrière Hospital, AP-HP & University Pierre and Marie Curie, Paris, France.
Journal of inherited metabolic disease.J Inherit Metab Dis.2013 May;36(3):411-25. doi: 10.1007/s10545-012-9509-7. Epub 2012 Jul 20.
We wish to delineate a novel, and rapidly expanding, group of inborn errors of metabolism with neurological/muscular presentations: the defects in phospholipids, sphingolipids and long chain fatty acids biosynthesis. At least 14 disorders have been described so far. Clinical presentations are divers
PMID 22814679

Aldehyde dehydrogenase 3 converts farnesal into farnesoic acid in the corpora allata of mosquitoes.

Rivera-Perez C, Nouzova M, Clifton ME, Garcia EM, Leblanc E, Noriega FG.SourceDepartment of Biological Sciences, Florida International University, 11200 SW 8th St, Miami, FL 33199, USA.
Insect biochemistry and molecular biology.Insect Biochem Mol Biol.2013 Apr 29;43(8):675-682. doi: 10.1016/j.ibmb.2013.04.002. [Epub ahead of print]
The juvenile hormones (JHs) play a central role in insect reproduction, development and behavior. Interrupting JH biosynthesis has long been considered a promising strategy for the development of target-specific insecticides. Using a combination of RNAi, in vivo and in vitro studies we characteriz
PMID 23639754

Sporadic VACTERL Association in a Japanese Family with Sjögren-Larsson Syndrome.

Takeichi T, Sugiura K, Arai H, Ishii K, Kono M, Akiyama M.SourceDepartment of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan.
Acta dermato-venereologica.Acta Derm Venereol.2013 Feb 28. doi: 10.2340/00015555-1526. [Epub ahead of print]
Abstract is missing (Letter).
PMID 23450279

Japanese Journal

A novel homozygous missense mutation in the fatty aldehyde dehydrogenase gene causes Sjogren-Larsson syndrome

NAKANO Hajime,AKASAKA Eijiro,ROKUNOHE Daiki,YOKOYAMA Shohei,TOYOMAKI Yuka,UMEGAKI Noriko,MITSUHASHI Yoshihiko,SAWAMURA Daisuke
Journal of dermatological science 52(2), 136-138, 2008-11-01
NAID 10024457607

Novel and recurrent ALDH3A2 mutations in Italian patients with Sjogren-Larsson syndrome

DIDONA Biagio,CODISPOTI Andrea,BERTINI Enrico,RIZZO Wiliam B.,CARNEY Gael,ZAMBRUNO Giovanna,DIONISI-VICI Carlo,PARADISI Mauro,PEDICELLI Cristina,MELINO Gerry,TERRINONI Alessandro
Journal of human genetics 52(10), 865-870, 2007-10-01
NAID 10019776524

Related Pictures

★リンクテーブル★

リンク元	「シェーグレン・ラルソン症候群」
関連記事	「syndrome」

「シェーグレン・ラルソン症候群」

Sjögren-Larsson syndrome
	Classification and external resources
ICD-10	Q87.1 (ILDS Q87.136)
ICD-9	757.1 (CDC/BPA 757.120)
OMIM	270200
DiseasesDB	30051
eMedicine	derm/706
MeSH	D016111

　　[★]

英: Sjogren-Larsson syndrome
同: Sjogren-Larsson症候群、シェーグレン-ラルソン症候群; 魚鱗癬-リトル病 ichthyosis-Little disease

「syndrome」

　　[★]

n.

症候群

[Fitz2-1] Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.

[Andrews-2] James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.

[Bolognia-3] Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.

[pmid9829906-4] Sillén A, Anton-Lamprecht I, Braun-Quentin C, et al. (1998). "Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome". Hum. Mutat. 12 (6): 377–84. doi:10.1002/(SICI)1098-1004(1998)12:6<377::AID-HUMU3>3.0.CO;2-I. PMID 9829906.

[5] synd/1678 at Who Named It?

[pmid13457946-6] SJOGREN T, LARSSON T (1957). "Oligophrenia in combination with congenital ichthyosis and spastic disorders; a clinical and genetic study". Acta Psychiatr Neurol Scand Suppl 113: 1–112. PMID 13457946.

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案内

Sjogren-Larsson syndrome